Variant report

Variant	nsv1056659
Chromosome Location	chr21:16646531-16709391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16637346..16640353-chr21:16642715..16647121,4	MCF-7	breast:
2	chr21:16644102..16647001-chr21:16664045..16665720,2	MCF-7	breast:
3	chr21:16704646..16706338-chr21:16708707..16710210,2	K562	blood:
4	chr21:16644102..16647001-chr21:16664045..16665720,2	MCF-7	breast:
5	chr21:16656272..16660929-chr21:16661608..16666085,6	MCF-7	breast:
6	chr21:16575011..16578774-chr21:16661740..16665186,4	MCF-7	breast:
7	chr21:16671940..16673950-chr21:16682197..16684550,2	K562	blood:
8	chr21:16666480..16669393-chr21:16671838..16673538,2	MCF-7	breast:
9	chr21:16662853..16665318-chr21:16789620..16791689,2	MCF-7	breast:
10	chr21:16644258..16646284-chr21:16652604..16654426,2	MCF-7	breast:
11	chr21:16648726..16653519-chr21:16654115..16657932,4	MCF-7	breast:
12	chr21:16663401..16665237-chr21:16852171..16854477,2	MCF-7	breast:
13	chr21:16657185..16659750-chr21:16659806..16661813,2	K562	blood:
14	chr21:16569254..16574166-chr21:16662821..16666093,6	MCF-7	breast:
15	chr21:16582346..16583017-chr21:16654840..16655533,2	MCF-7	breast:
16	chr21:16656272..16660929-chr21:16661608..16666085,6	MCF-7	breast:
17	chr21:16668614..16670305-chr21:16854249..16855799,2	MCF-7	breast:
18	chr21:16577077..16584288-chr21:16662087..16667374,8	MCF-7	breast:
19	chr21:16436105..16438114-chr21:16663913..16667261,4	MCF-7	breast:
20	chr21:16666480..16669393-chr21:16671838..16673538,2	MCF-7	breast:
21	chr21:16704646..16706338-chr21:16708707..16710210,2	K562	blood:
22	chr21:16637879..16639800-chr21:16647590..16649784,2	MCF-7	breast:
23	chr21:16435878..16438432-chr21:16650177..16651724,2	MCF-7	breast:
24	chr21:16581111..16587442-chr21:16661859..16666667,10	MCF-7	breast:
25	chr21:16671940..16673950-chr21:16682197..16684550,2	K562	blood:
26	chr21:16436833..16438926-chr21:16661522..16663298,2	MCF-7	breast:
27	chr21:16436252..16438381-chr21:16652536..16654301,2	MCF-7	breast:
28	chr21:16584349..16587030-chr21:16664217..16666665,2	MCF-7	breast:
29	chr21:16434809..16437428-chr21:16670634..16672360,2	MCF-7	breast:
30	chr21:16435856..16438455-chr21:16677252..16679908,2	MCF-7	breast:
31	chr21:16436807..16439448-chr21:16663226..16666430,5	MCF-7	breast:
32	chr21:16648726..16653519-chr21:16654115..16657932,4	MCF-7	breast:
33	chr21:16668935..16671016-chr21:16674652..16676612,2	MCF-7	breast:
34	chr21:16701999..16704280-chr21:16706515..16709214,3	K562	blood:
35	chr21:16668935..16671016-chr21:16674652..16676612,2	MCF-7	breast:
36	chr21:16235915..16238127-chr21:16662847..16665093,2	MCF-7	breast:
37	chr21:16657185..16659750-chr21:16659806..16661813,2	K562	blood:
38	chr21:16570442..16572661-chr21:16665803..16668621,2	MCF-7	breast:
39	chr21:16570806..16572373-chr21:16663419..16665582,2	MCF-7	breast:
40	chr21:16663539..16666081-chr21:16712410..16715629,4	MCF-7	breast:
41	chr21:16668080..16669974-chr21:16795633..16798229,2	MCF-7	breast:
42	chr21:16662884..16665504-chr21:16853719..16855454,2	MCF-7	breast:
43	chr21:16701999..16704280-chr21:16706515..16709214,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180530	chromatin interactions
ENSG00000236471	chromatin interactions

Extended variants
information (count: 2416 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2416 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116465043	chr21:16646537-16646538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371160888	chr21:16646559-16646560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187994312	chr21:16646563-16646564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370140915	chr21:16646566-16646567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146499747	chr21:16646567-16646568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2823193	chr21:16646594-16646595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559009495	chr21:16646692-16646693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140995865	chr21:16646697-16646698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9808808	chr21:16646704-16646705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554712509	chr21:16646723-16646724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575162370	chr21:16646731-16646732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144732902	chr21:16646737-16646738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534277854	chr21:16646756-16646757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2823194	chr21:16646778-16646779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370803207	chr21:16646843-16646844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16980843	chr21:16646851-16646852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545540792	chr21:16646899-16646900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374632766	chr21:16646914-16646915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116789756	chr21:16646925-16646926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112890160	chr21:16646928-16646929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536637126	chr21:16646976-16646977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561382161	chr21:16647000-16647001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546778903	chr21:16647019-16647020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559548740	chr21:16647021-16647022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs368157007	chr21:16647022-16647023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553448598	chr21:16647032-16647033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs62220276	chr21:16647065-16647066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181217252	chr21:16647108-16647109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374499379	chr21:16647138-16647139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73354905	chr21:16647139-16647140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546515884	chr21:16647152-16647153	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185356206	chr21:16647158-16647159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545412140	chr21:16647168-16647169	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372243829	chr21:16647176-16647177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs143663877	chr21:16647183-16647184	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76491204	chr21:16647194-16647195	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs148082907	chr21:16647205-16647206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537695108	chr21:16647207-16647208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557697482	chr21:16647208-16647209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144125337	chr21:16647343-16647344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs146903875	chr21:16647360-16647361	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553322016	chr21:16647363-16647364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537061082	chr21:16647378-16647379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550833046	chr21:16647424-16647425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191651727	chr21:16647432-16647433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs541577390	chr21:16647465-16647466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183800384	chr21:16647481-16647482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs139286708	chr21:16647485-16647486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544057773	chr21:16647499-16647500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544792815	chr21:16647521-16647522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16636200-16653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:16643200-16647000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16644400-16647000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:16644800-16648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:16644800-16648000	Weak transcription	Placenta	Placenta
6	chr21:16645200-16648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:16645400-16647000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:16645400-16647200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:16645400-16648200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:16645600-16647800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:16645600-16647800	Weak transcription	HSMM	muscle
12	chr21:16645600-16648000	Weak transcription	Adipose Nuclei	Adipose
13	chr21:16645600-16648000	Weak transcription	HSMMtube	muscle
14	chr21:16646000-16646600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr21:16646000-16647000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:16646600-16649000	Enhancers	Primary hematopoietic stem cells	blood
17	chr21:16647000-16647200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr21:16647000-16647600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:16647000-16648200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:16647000-16649000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:16647200-16647400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:16647200-16648000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:16647400-16647800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:16647600-16650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:16647800-16648200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr21:16647800-16649000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:16647800-16649000	Enhancers	HSMM	muscle
28	chr21:16648000-16648400	Enhancers	HSMMtube	muscle
29	chr21:16648000-16648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr21:16648000-16648800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:16648000-16648800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:16648000-16648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:16648000-16648800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr21:16648000-16649000	Enhancers	Adipose Nuclei	Adipose
35	chr21:16648000-16649000	Enhancers	Placenta	Placenta
36	chr21:16648000-16649000	Enhancers	HMEC	breast
37	chr21:16648200-16648800	Enhancers	HepG2	liver
38	chr21:16648200-16649000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr21:16648200-16649000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:16648200-16651400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:16648600-16651400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr21:16648800-16650000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:16649000-16649600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr21:16649000-16650600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:16649000-16650600	Weak transcription	Adipose Nuclei	Adipose
46	chr21:16649000-16651000	Weak transcription	HMEC	breast
47	chr21:16649000-16652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:16649000-16652000	Weak transcription	HSMM	muscle
49	chr21:16649000-16652400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr21:16649000-16654400	Weak transcription	Placenta	Placenta

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